Sequenom expects to have RTP facility operational this year

A San Diego, Calif.,-based company expects a Research Triangle Park laboratory to be operational later this year that would primarily be for processing a blood test for Down syndrome.

Sequenom released the MaterniT21 test more than a year ago for pregnant women who are at risk for carrying a fetus with Down syndrome, or trisomy 21. The test detects increased representation of chromosome 21 material, which is associated with trisomy 21.

Down Syndrome is caused by an error in cell division that results in a person having a third, or part of a third, copy of chromosome 21, according to the National Institute of Child Health & Human Development.

People with Down syndrome can have physical problems and intellectual disabilities, according to the Centers for Disease Control and Prevention.

The company said in a March 7 news release that a Sequenom subsidiary is working to complete the build-out of a laboratory in North Carolina to increase its capacity for processing MaterniT21 PLUS tests.

The facility, which is on Kit Creek Road in the Wake County side of the Research Triangle Park, will increase the company’s capacity to process the non-invasive, prenatal test to a minimum of 300,000 tests per year, the company said in the release.

Last year, Sequenom processed and reported about 92,000 test samples, with more than 61,000 of those MaterniT21 PLUS samples, according to the release.

A spokeswoman for the California-based company said in an email that the facility in North Carolina will primarily be for processing samples of MaterniT21 PLUS.

The company continues to “work actively” on plans for the facility, according to the email, but nothing is finalized.

In October 2011, then-Gov. Beverly Perdue had announced that a Sequenom subsidiary planned to invest $18.7 million in a molecular diagnostics clinical laboratory in the Wake County side of the Research Triangle Park, and to create 242 jobs.

The subsidiary, the Sequenom Center for Molecular Medicine, operates labs in Grand Rapids, Mich., and in San Diego, and develops and validates Sequenom tests as a service for doctors, according to a U.S. Securities and Exchange commission filing.

Tied to the company’s plans to locate the additional lab here, it was awarded a Job Development Investment Grant that could yield up to $2.3 million in benefits if the company meets certain performance targets.

Josh Ellis, a spokesman for the N.C Department of Commerce, said the company would have had to have started hiring and other activities tied to the grant last year. He said there’s a filing deadline for companies March 1, so he said information on whether the company met its targets is still under review.

In October 2011, Sequenom commercialized the MaterniT21 test for pregnant women who are at risk for carrying a fetus with trisomy 21. The test detects increased representation of chromosome 21 material, which is associated with trisomy 21.

In February of last year, the MaterniT21 test was rebranded under the name MaterniT21 PLUS. The expanded test includes detection of any increased representation of either chromosome 18 or 13 material, which are associated with trisomy 18 and 13, in addition to chromosome 21 material, which is associated with trisomy 21.

According to the email from a company spokeswoman, to complete the test, a pregnant woman’s physician completes a blood draw, usually from the arm, during an office visit. The sample is packaged and shipped to Sequenom Center for Molecular Medicine’s laboratory in San Diego for processing.

The email said the process is different from traditional, “invasive” procedures, such as amniocentesis or CVS, which require retrieving placental tissue or fluid to analyze for a fetal chromosomal abnormality.

The U.S. Food and Drug Administration does not regulate laboratory-developed tests created and used by the same laboratory, but said in June of 2010 that it was reconsidering its role in regulation of the tests.

Erica V. Jefferson, deputy director for the FDA Office of Medical Affairs, said in an email that officials are working on guidance outlining the FDA officials’ thinking on the approach it could take on regulation. That is guidance is under administrative review.

“Today these tests are often used to assess high-risk, but relatively common diseases and conditions, and many are genetic testes,” Jefferson said in the email of laboratory-developed tests “These tests, which are becoming more complex and high risk, are playing an increasingly important role in clinical decision-making. As a result, LDTs that have not been properly validated, but put patients at risk, such as for missed diagnosis, wrong diagnosis, and failure to receive appropriate treatment.”

Last year, Sequenom’s revenues were up 60 percent to $89.7 million, the company said in the March 7 release. Its diagnostic services revenues were, for the first time in the company’s history, greater than its revenues from its genetic analysis business. It reported a wider net loss in the year, however, of $117.1 million.

A research report from Credit Suisse issued about the company’s March 7 earnings release said the earnings results left the analysts wanting more significant updates on test volumes, and other information.

The report said that what the company did disclose makes it difficult from an investment perspective to “gain added comfort with the story, especially in light of all the added competitive noise we have heard in the noninvasive prenatal testing market in the past several weeks.”